Results 11 to 20 of about 3,221 (198)
Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1. [PDF]
Metab Brain Dis, 2019 Glutaric acidemia type 1 (GA1) is an inherited metabolic autosomal recessive disorder that is caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH). Untreated patients suffer primarily from severe striatal damage. More than 250 variants in the GCDH
Zayed H +9 more
europepmc +7 more sources
Glutaric Acidemia Type 1: A Case of Infantile Stroke. [PDF]
JIMD Rep, 2018 Glutaric acidemia Type 1 (GA-1) is an autosomal recessively inherited metabolic disorder which is associated with GCDH gene mutations which alters the glutaryl-CoA dehydrogenase, an enzyme playing role in the catabolic pathways of the amino acids lysine, hydroxylysine, and tryptophan.
Kaya Ozcora GD +5 more
europepmc +6 more sources
Glutaric acidemia type 1. [PDF]
Am J Med Genet C Semin Med Genet, 2006 AbstractGlutaric acidemias comprise different disorders resulting in an increased urinary excretion of glutaric acid. Glutaric acidemia type 1 (GA‐1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl‐CoA dehydrogenase.
Hedlund GL, Longo N, Pasquali M.
europepmc +5 more sources
Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood. [PDF]
JIMD Rep, 2018 Glutaric acidemia type 1 (GA-1, OMIM no. 231670) is an autosomal recessive disorder caused by the deficiency of glutaryl-CoA dehydrogenase (GCDH). The subsequent accumulation of the amino acids lysine, hydroxylysine, and tryptophan and their breakdown intermediates can be neurotoxic and particularly cause injury to the basal ganglia.Roughly 1 of 100 ...
Patel B +4 more
europepmc +5 more sources
Neuropathology of Glutaric Acidemia Type 1
Pediatric Neurology Briefs, 2005 The neuropathological findings in 5 children and 1 adult (8 months-40 years of age) with glutaric acidemia type 1 (GA-1), all N American aboriginals with the same homozygous mutation, were studied at the Manitoba Institute of Child Health, Winnipeg, and ...
J Gordon Millichap
doaj +3 more sources
Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients. [PDF]
JIMD Rep, 2015 Glutaric acidemia I (GA I, #231670) is one of the treatable, autosomal recessively inherited metabolic disorders. Macrocephaly, acute encephalitis-like crises, dystonia and characteristic frontotemporal atrophy are the hallmarks of this disease. In this communication, we present the clinical, biochemical and molecular profile of seventeen GA I patients
Gupta N +13 more
europepmc +5 more sources
Glutaric acidemia type 1 (clinical cases)
L.O. Badalyan Neurological Journal, 2022 Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency, glutaric acidemia type 1) (OMIM 231670) is an autosomal recessive disease caused by mutations in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCDH).
O. Globa +7 more
semanticscholar +2 more sources
Glutaric Acidemia Type 1 [PDF]
Definitions, 2020 A rare autosomal recessive inherited metabolic disorder caused by deficiency of the enzyme glutaryl-CoA dehydrogenase. It is characterized by abnormalities in the metabolism of lysine, hydroxylysine, and tryptophan that result in the accumulation and ...
Zarin Banikazemi, M. Mazidi, M. Nematy
semanticscholar +2 more sources
Erratum to: Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients. [PDF]
JIMD Rep, 2015 Glutaric acidemia I (GA I, #231670) is one of the treatable, autosomal recessively inherited metabolic disorders. Macrocephaly, acute encephalitis-like crises, dystonia and characteristic frontotemporal atrophy are the hallmarks of this disease. In this communication, we present the clinical, biochemical and molecular profile of seventeen GA I patients
Gupta N +13 more
europepmc +5 more sources
Glutaric Acidemia type 1 with Atypical Acylcarnitine Profile During Newborn Screening [PDF]
, 2021 Background and aims Glutaric acidemia type 1 (GA1) is a treatable disorder of cerebral organic acid metabolism caused by a defective glutaryl-CoA dehydrogenase (GCDH) gene. There is scarcity of reports of GA1 diagnoses following newborn screening (NBS)
Yiming Lin +6 more
semanticscholar +2 more sources